title: Estrogen receptor 1 gene rs2295193 polymorphism and anorexia nervosa: new data and meta-analysis.
abstract: BACKGROUND
  Estrogen plays essential roles in the regulation of food intake, adiposity, and body weight control. The estrogen alpha receptor, encoded by estrogen receptor 1 gene (ESR1), has been implicated with anorexia nervosa (AN). A previous study indicated that the rs2295193 polymorphism in ESR1 may confer a genetic susceptibility to AN.
  
  
  METHODS
  In a case-control study, we assessed 195 AN probands and 93 healthy controls; 99 trios were studied in a family-based association analysis through genotyping the rs2295193 polymorphism in ESR1. Additionally, we carried out a meta-analysis of the combined sample groups.
  
  
  RESULTS
  There were no significant differences in the genotype or allele frequencies of the rs2295193 polymorphism between the AN and control groups (Ps > 0.05). In the transmission disequilibrium test (TDT) analyses, there was no evidence for biased transmission of the G allele of rs2295193 polymorphism (P = 0.32). In female-only samples, no significant association was observed between the rs2295193 polymorphism and AN in either case-control or transmission disequilibrium test analyses (Ps > 0.05). The meta-analysis revealed that no excess of transmission of the G allele in AN families (pooled odds ratio = 1.10, P = 0.79).
  
  
  CONCLUSIONS
  Meta-analytically combined evidence from the present genotyping and the literature showed that rs2295193 polymorphism in ESR1 is not a major genetic susceptibility factor in AN.
authors.affiliation: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Zhang
authors.forename: Jue
authors.initials: J
authors.lastname: Chen
authors.forename: Xiuzhen
authors.initials: X
authors.lastname: Jia
authors.forename: Shunying
authors.initials: S
authors.lastname: Yu
authors.forename: Wenhui
authors.initials: W
authors.lastname: Jiang
authors.forename: Ran
authors.initials: R
authors.lastname: Zhang
authors.forename: Aihua
authors.initials: A
authors.lastname: Yuan
authors.forename: Yiping
authors.initials: Y
authors.lastname: Qian
authors.forename: Juan
authors.initials: J
authors.lastname: Fan
authors.forename: Mingdao
authors.initials: M
authors.lastname: Zhang
authors.forename: Yiru
authors.initials: Y
authors.lastname: Fang
authors.forename: Zeping
authors.initials: Z
authors.lastname: Xiao
mesh_terms: D000293:Adolescent; D000483:Alleles; D000856:Anorexia Nervosa / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D004967:Estrogens / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics; D055815:Young Adult
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D004967:Estrogens
keywords: anorexia nervosa; association; estrogen receptor 1 gene; meta-analysis; polymorphism